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De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report
BACKGROUND: TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental processes, and variants in this gene have been associated with schizophreni...
Autores principales: | Mavros, Chrystal F., Brownstein, Catherine A., Thyagrajan, Roshni, Genetti, Casie A., Tembulkar, Sahil, Graber, Kelsey, Murphy, Quinn, Cabral, Kristin, VanNoy, Grace E., Bainbridge, Matthew, Shi, Jiahai, Agrawal, Pankaj B., Beggs, Alan H., D’Angelo, Eugene, Gonzalez-Heydrich, Joseph |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234620/ https://www.ncbi.nlm.nih.gov/pubmed/30424743 http://dx.doi.org/10.1186/s12881-018-0711-9 |
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